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LMOD2 ‐related dilated cardiomyopathy presenting in late infancy
Author(s) -
Lay Erica,
Azamian Mahshid S.,
Denfield Susan W.,
Dreyer William,
Spinner Joseph A.,
Kearney Debra,
Zhang Lilei,
Worley Kim C.,
Bi Weimin,
Lalani Seema R.
Publication year - 2022
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62699
Subject(s) - dilated cardiomyopathy , cardiomyopathy , medicine , sibling , contractility , cardiology , frameshift mutation , pediatrics , heart failure , genetics , biology , psychology , gene , mutation , developmental psychology
Leiomodin‐2 (LMOD2) is an important regulator of the thin filament length, known to promote elongation of actin through polymerization at pointed ends. Mice with Lmod2 deficiency die around 3 weeks of age due to severe dilated cardiomyopathy (DCM), resulting from decreased heart contractility due to shorter thin filaments. To date, there have been three infants from two families reported with biallelic variants in LMOD2 , presenting with perinatal onset DCM. Here, we describe a third family with a child harboring a previously described homozygous frameshift variant, c.1243_1244delCT (p.L415Vfs*108) with DCM, presenting later in infancy at 9 months of age. Family history was relevant for a sibling who died suddenly at 1 year of age after being diagnosed with cardiomegaly. LMOD2 ‐related cardiomyopathy is a rare form of inherited cardiomyopathy resulting from thin filament length dysregulation and should be considered in genetic evaluation of newborns and infants with suspected autosomal recessive inheritance or sporadic early onset cardiomyopathy.